Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.K161fs

POFUT1

70 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-l...

Pfam Domains

O-FucTaa 34–369UCSCGDP-fucose protein O-fucosyltransferase

Gene Aliases

HGNC Name

protein O-fucosyltransferase 1

HGNC Alias Symbols

O-FUT; O-Fuc-T; KIAA0180; FUT12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_015352.2
p.K161fs
c.481_482fs
Surrounding Variants
1 paper
NM_015352.2
p.K161M
c.482A>T
3 papers
NM_015352.2
p.K161delFs
c.482delA
1 paper
NM_015352.2
p.S162A
c.484T>G
1 paper
NM_015352.2
p.S162W
c.485C>G
4 papers
NM_015352.2
p.S162L
c.485C>T
1 paper
NM_015352.2
p.Q154R
c.461A>G
3 papers
NM_015352.2
p.Q154*
c.460C>T
1 paper
NM_015352.2
p.W152*
c.456G>A
1 paper
NM_015352.2
p.W152*
c.455G>A
2 papers
NM_015352.2
p.Y174*
c.522C>A
2 papers
NM_015352.2
p.Y174*
c.522C>G
6 papers
NM_015352.2
p.E144*
c.430G>T
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